Article Text

PDF

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
  1. J de Groote,
  2. P A Farndon,
  3. M V Kilpatrick,
  4. A de Paepe,
  5. J W Oorthuys,
  6. N C Nevin,
  7. A H Child,
  8. F M Pope
  1. Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex.

    Abstract

    Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Linked Articles